scholarly journals Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Aniko Sabo ◽  
David Murdock ◽  
Shannon Dugan ◽  
Qingchang Meng ◽  
Marie‐Claude Gingras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Community Based ◽  
High Diagnostic Yield

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

2016 ◽  
Vol 54 (2) ◽  
pp. 87-92 ◽  
Author(s):  
Francisco Martínez ◽  
Alfonso Caro-Llopis ◽  
Mónica Roselló ◽  
Silvestre Oltra ◽  
Sonia Mayo ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Diagnostic Yield ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
High Diagnostic Yield ◽  
Generation Sequencing

scholarly journals The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

2021 ◽  
Author(s):  
Pia Zacher ◽  
Thomas Mayer ◽  
Frank Brandhoff ◽  
Tobias Bartolomaeus ◽  
Diana Le Duc ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Fragile X ◽  
Genetic Diagnostics ◽  
High Yield ◽  
Chromosomal Microarray ◽  
Limited Information ◽  
Single Nucleotide Variants ◽  
Elderly Individuals

Abstract Purpose Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding adults or elderly. Methods We investigated 150 adult/elderly individuals with NDDE by conventional karyotyping, FMR1 testing, chromosomal microarray, panel sequencing, and for unresolved cases, also by exome sequencing (nsingle = 71, ntrios = 24). Results We identified (likely) pathogenic variants in 71 cases (47.3%) comprising fragile X syndrome (n = 1), disease-causing copy number (n = 23), and single-nucleotide variants (n = 49). Seven individuals displayed multiple independent genetic diagnoses. The diagnostic yield correlated with the severity of intellectual disability. Individuals with anecdotal evidence of exogenic early-life events (e.g., nuchal cord, complications at delivery) with alleged/unproven association to the disorder had a particularly high yield of 58.3%. Screening for disease-specific comorbidities was indicated in 45.1% and direct treatment consequences arose in 11.8% of diagnosed individuals. Conclusion Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

2016 ◽  
Vol 22 (4) ◽  
pp. 615-624 ◽  
Author(s):  
S Anazi ◽  
S Maddirevula ◽  
E Faqeih ◽  
H Alsedairy ◽  
F Alzahrani ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Diagnostic Yield ◽  
Clinical Genomics ◽  
High Diagnostic Yield

scholarly journals High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

2015 ◽  
Vol 160 (2) ◽  
pp. 354-363.e9 ◽  
Author(s):  
Kristy Lee ◽  
Jonathan S. Berg ◽  
Laura Milko ◽  
Kristy Crooks ◽  
Mei Lu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Retinal Dystrophies ◽  
Whole Exome

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

2017 ◽  
Vol 92 (6) ◽  
pp. 594-605 ◽  
Author(s):  
Yoo-Mi Kim ◽  
Yun-Jin Lee ◽  
Jae Hong Park ◽  
Hyoung-Doo Lee ◽  
Chong Kun Cheon ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Growth Disorders ◽  
Targeted Exome Sequencing ◽  
High Diagnostic Yield

Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

2021 ◽  
Author(s):  
E. Z. Taşkıran ◽  
B. Karaosmanoğlu ◽  
C. Koşukcu ◽  
G. Ürel‐Demir ◽  
Ö. Akgün‐Doğan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
Whole Exome

scholarly journals Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study

2021 ◽  
Author(s):  
Yu Sun ◽  
Jing Peng ◽  
Desheng Liang ◽  
Xiantao Ye ◽  
Na Xu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Genome Sequencing ◽  
Clinical Utility ◽  
Diagnostic Yield ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Chromosomal Microarray Analysis ◽  
High Diagnostic Yield ◽  
Wide Range

Genome sequencing(GS) has been applied in the diagnosis of global developmental delay(GDD)/intellectual disability(ID). However, the performance in those with inconclusive results from chromosomal microarray analysis(CMA) and exome sequencing(ES) is unknown. We recruited 100 pediatric GDD/ID patients from multiple sites in China from February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test prior to enrollment. Reanalysis of CMA/ES data was performed. The yield of GS was calculated and explanations for missed diagnoses by CMA/ES were investigated. Clinical utility was assessed by interviewing the parents by phone. The overall diagnostic yield of GS was 23%. Seven families could have been solved with reanalysis of ES data. 13 families were missed by previous CMA/ES due to improper method. Three remained unsolved after ES reanalysis due to allele dropout, complex variants missed by ES, and a CNV in untranslated regions. Follow-up of the diagnosed families revealed that nine families experienced changes in clinical management, including identification of targeted treatments, cessation of unnecessary treatment, and considerations for family planning. GS demonstrated high diagnostic yield and clinical utility in this cohort of undiagnosed GDD/ID patients, detecting a wide range of variant types of different sizes in a single workflow.

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